In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
2.8011463
seq distance
0
chain
C
D10C
begin
172
end
291
score
100.0
distance
2.8011463
seq distance
0
chain
C
D10C
begin
172
end
291
score
100.0
distance
2.8011463
seq distance
0
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
3.924774
seq distance
8
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
3.924774
seq distance
8
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
4.4002852
seq distance
1
chain
C
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
4.4002852
seq distance
1
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
8.617518
seq distance
13
chain
C
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
8.617518
seq distance
13
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.078368
seq distance
5
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
11.078368
seq distance
5
chain
C
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
12.877849
seq distance
False
chain
B
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
12.877849
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
12.877849
seq distance
False
chain
B
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
12.877849
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
12.889762
seq distance
6
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
12.889762
seq distance
6
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
14.35021
seq distance
8
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
15.344692
seq distance
False
chain
B
ZP-C
begin
454
end
585
score
99.58677685950413
distance
15.344692
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
15.344692
seq distance
False
chain
B
ZP
begin
448
end
583
score
102.35628342245991
distance
15.344692
seq distance
False
chain
B
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
16.331575
seq distance
32
chain
C
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
16.331575
seq distance
32
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
17.2745
seq distance
78
chain
C
ZP-N
begin
334
end
429
score
100.0
distance
17.2745
seq distance
78
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
17.2745
seq distance
78
chain
C
ZP
begin
334
end
440
score
99.93627867459644
distance
17.2745
seq distance
78
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
17.596687
seq distance
36
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
17.596687
seq distance
36
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
18.310932
seq distance
26
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
18.310932
seq distance
26
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
18.701004
seq distance
19
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
19.592552
seq distance
22
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
19.592552
seq distance
22
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
20.359722
seq distance
60
chain
C
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
20.359722
seq distance
60
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
20.385239
seq distance
59
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
20.385239
seq distance
59
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.009628
seq distance
15
chain
C
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
22.009628
seq distance
15
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
22.460297
seq distance
13
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
22.460297
seq distance
13
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
22.983534
seq distance
91
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
22.983534
seq distance
91
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
23.20845
seq distance
61
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
23.20845
seq distance
61
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
23.426441
seq distance
46
chain
C
Beta hairpin
begin
150
end
171
score
100.0
distance
23.426441
seq distance
46
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
24.583172
seq distance
44
chain
C
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
24.583172
seq distance
44
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
25.133976
seq distance
159
chain
C
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
25.133976
seq distance
159
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
28.798372
seq distance
62
chain
C
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
28.798372
seq distance
62
chain
C
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
29.740574
seq distance
False
chain
B
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
29.740574
seq distance
False
chain
B
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
30.185167
seq distance
67
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
30.185167
seq distance
67
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
30.837887
seq distance
68
chain
C
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
30.837887
seq distance
68
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
31.226957
seq distance
47
chain
C
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
31.226957
seq distance
47
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
33.18318
seq distance
False
chain
A
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
453
score
100.0
distance
33.18318
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
33.18318
seq distance
False
chain
A
ZP
begin
334
end
585
score
99.78354978354979
distance
33.18318
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
35.273838
seq distance
165
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
35.273838
seq distance
165
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
35.9567
seq distance
69
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
35.9567
seq distance
69
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
35.9567
seq distance
69
chain
C
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
35.9567
seq distance
69
chain
C
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
37.276913
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
F
position
571
score
50.0
distance
37.276913
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
37.411423
seq distance
False
chain
B
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
37.411423
seq distance
False
chain
B
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
38.600533
seq distance
77
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
38.600533
seq distance
77
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
39.757156
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
39.757156
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
40.316372
seq distance
False
chain
B
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
40.316372
seq distance
False
chain
B
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
40.90778
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
40.90778
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
41.42809
seq distance
False
chain
A
ZP-N
begin
334
end
429
score
100.0
distance
41.42809
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
43.82213
seq distance
False
chain
B
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.905952
seq distance
82
chain
C
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
44.905952
seq distance
82
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
46.553772
seq distance
97
chain
C
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
46.553772
seq distance
97
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
46.97484
seq distance
91
chain
C
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
46.97484
seq distance
91
chain
C
ZP-C
begin
454
end
585
score
99.58677685950413
distance
48.73443
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
48.73443
seq distance
False
chain
A
ZP-C
begin
454
end
585
score
99.58677685950413
distance
48.73443
seq distance
False
chain
A
Internal hydrophobic patch (IHP)
begin
454
end
465
score
100.0
distance
48.73443
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
51.911644
seq distance
89
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
51.911644
seq distance
89
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
52.334015
seq distance
105
chain
C
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
52.334015
seq distance
105
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
54.780293
seq distance
False
chain
B
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
446
end
453
score
93.18181818181817
distance
54.780293
seq distance
False
chain
B
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
57.534805
seq distance
120
chain
C
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
57.534805
seq distance
120
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
57.534805
seq distance
110
chain
C
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
57.534805
seq distance
110
chain
C
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
In dbSNP:rs55772253.
original residue
V
variation residue
L
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
Leads to retention in the endoplasmic reticulum, probably due to misfolding.
original residue
V
variation residue
R
position
458
score
100.0
distance
58.570618
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
59.86149
seq distance
108
chain
C
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
59.86149
seq distance
108
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
60.454056
seq distance
174
chain
C
Flexible ZP-N/ZP-C linker; important for secretion and polymerization into filaments
begin
430
end
442
score
95.1048951048951
distance
60.454056
seq distance
174
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
60.983685
seq distance
174
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
D
variation residue
L
position
430
score
100.0
distance
60.983685
seq distance
174
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.465073
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
L
variation residue
K
position
333
score
100.0
distance
63.465073
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
66.21422
seq distance
False
chain
A
In ADTKD1.
original residue
A
variation residue
E
position
461
score
100.0
distance
66.21422
seq distance
False
chain
A
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
66.5132
seq distance
179
chain
C
Impairs polymerization and filament formation of the secreted form.
original residue
L
variation residue
S
position
435
score
100.0
distance
66.5132
seq distance
179
chain
C
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
67.13108
seq distance
False
chain
A
Abolishes polymerization and filament formation of the secreted form.
original residue
I
variation residue
K
position
421
score
100.0
distance
67.13108
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
73.19339
seq distance
140
chain
C
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
73.19339
seq distance
140
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
75.39049
seq distance
114
chain
C
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
75.39049
seq distance
114
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
76.264786
seq distance
153
chain
C
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
76.264786
seq distance
153
chain
C
EGF-like 4
begin
292
end
323
score
100.0
distance
79.20539
seq distance
False
chain
A
EGF-like 4
begin
292
end
323
score
100.0
distance
79.20539
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
80.12669
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
G
position
347
score
100.0
distance
80.12669
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
82.257515
seq distance
False
chain
A
Abolishes polymerization. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization in 555-F-A-556 DEL or 586-A--A-589; when associated with 555-F-A-556 DEL or 586-A--A-589.
original residue
R
variation residue
A
position
415
score
100.0
distance
82.257515
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
83.089195
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917772.
original residue
C
variation residue
G
position
300
score
100.0
distance
83.089195
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
83.13336
seq distance
False
chain
A
Abolishes polymerization, in a domiFalset-negative manner. No effect on protein trafficking or secretion. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
555
end
556
score
100.0
distance
83.13336
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
83.23628
seq distance
165
chain
C
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
83.23628
seq distance
165
chain
C
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
84.21058
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
Y
position
317
score
100.0
distance
84.21058
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
84.68222
seq distance
False
chain
A
D10C
begin
172
end
291
score
100.0
distance
84.68222
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
86.666626
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1555487318.
original residue
Q
variation residue
P
position
316
score
100.0
distance
86.666626
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Abolishes cleavage by HPN. Abolishes polymerization, in a domiFalset-negative manner. Suppresses the domiFalset-negative loss of polymerization; when associated with A-415.
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
Essential for cleavage by HPN
begin
586
end
587
score
59.09090909090909
distance
87.54947
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.801254
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs121917773.
original residue
C
variation residue
R
position
315
score
100.0
distance
87.801254
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.92705
seq distance
158
chain
C
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
88.92705
seq distance
158
chain
C
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
91.517624
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
P
position
222
score
100.0
distance
91.517624
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
92.21964
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
223
score
100.0
distance
92.21964
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
92.44705
seq distance
False
chain
A
In ADTKD1.
original residue
R
variation residue
S
position
185
score
100.0
distance
92.44705
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
92.66091
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
92.66091
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
T
variation residue
K
position
225
score
100.0
distance
92.66091
seq distance
False
chain
A
In ADTKD1.
original residue
T
variation residue
M
position
225
score
100.0
distance
92.66091
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
95.768234
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
F
position
195
score
100.0
distance
95.768234
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
98.63148
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
282
score
100.0
distance
98.63148
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
100.687
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
100.687
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934583.
original residue
C
variation residue
G
position
217
score
100.0
distance
100.687
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs28934583.
original residue
C
variation residue
R
position
217
score
100.0
distance
100.687
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
101.213806
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
R
variation residue
G
position
204
score
100.0
distance
101.213806
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
102.17537
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
R
position
230
score
100.0
distance
102.17537
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
103.40739
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917771.
original residue
C
variation residue
Y
position
255
score
100.0
distance
103.40739
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
105.8719
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs886043751.
original residue
C
variation residue
W
position
248
score
100.0
distance
105.8719
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
106.683
seq distance
False
chain
A
In ADTKD1.
original residue
W
variation residue
S
position
202
score
100.0
distance
106.683
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; dbSNP:rs1447458978.
original residue
P
variation residue
L
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
P
variation residue
Q
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
P
variation residue
R
position
236
score
100.0
distance
111.32401
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
111.462746
seq distance
False
chain
A
Beta hairpin
begin
150
end
171
score
100.0
distance
111.462746
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
117.98595
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
Y
position
170
score
100.0
distance
117.98595
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
120.80014
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
S
position
150
score
100.0
distance
120.80014
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
120.82348
seq distance
False
chain
A
EGF-like 3; calcium-binding
begin
108
end
149
score
100.0
distance
120.82348
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
121.48562
seq distance
False
chain
A
Probable-disease association mutation found in a patient with cystic kidney disease; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
C
variation residue
R
position
155
score
100.0
distance
121.48562
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
123.25874
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
123.25874
seq distance
False
chain
A
In ADTKD1; phenotype overlapping with medullary cystic kidney disease; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER.
original residue
C
variation residue
W
position
148
score
100.0
distance
123.25874
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934582.
original residue
C
variation residue
Y
position
148
score
100.0
distance
123.25874
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
129.52562
seq distance
False
chain
A
In ADTKD1; serum levels severely reduced; dbSNP:rs1555487621.
original residue
C
variation residue
G
position
120
score
100.0
distance
129.52562
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
132.30847
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
S
position
135
score
100.0
distance
132.30847
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
133.84593
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917769.
original residue
C
variation residue
R
position
126
score
100.0
distance
133.84593
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
136.85913
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
R
position
112
score
100.0
distance
136.85913
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
140.29645
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER; dbSNP:rs121917770.
original residue
N
variation residue
S
position
128
score
100.0
distance
140.29645
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
144.14339
seq distance
False
chain
A
In ADTKD1; results in mutant retention in the ER; results is abnormal intracellular polymerization of the mutant protein.
original residue
VCPEG
variation residue
AASC
begin
93
end
97
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 2; calcium-binding
begin
65
end
107
score
100.0
distance
144.14339
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
144.91112
seq distance
False
chain
A
EGF-like 1
begin
28
end
64
score
99.26289926289927
distance
144.91112
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
145.73567
seq distance
False
chain
A
In ADTKD1; causes a delay in protein export to the plasma membrane due to a longer retention time in the ER; dbSNP:rs780462125.
original residue
V
variation residue
E
position
109
score
100.0
distance
145.73567
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
152.74292
seq distance
False
chain
A
In ADTKD1.
original residue
C
variation residue
W
position
52
score
100.0
distance
152.74292
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
155.44884
seq distance
False
chain
A
In ADTKD1; dbSNP:rs121917768.
original residue
C
variation residue
Y
position
77
score
100.0
distance
155.44884
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
158.36208
seq distance
False
chain
A
In ADTKD1; dbSNP:rs28934584.
original residue
G
variation residue
C
position
103
score
100.0
distance
158.36208
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
159.09132
seq distance
False
chain
A
In ADTKD1; results in defective trafficking of mutant protein to the plasma membrane; the mutant is retained in the ER.
original residue
D
variation residue
A
position
59
score
100.0
distance
159.09132
seq distance
False
chain
A